Acute kidney injury: the experience of a tertiary center of Pediatric Nephrology / Insuficiência renal aguda: experiência de um centro terciário de Nefrologia Pediátrica

ABSTRACT Introduction: Acute kidney injury (AKI) is an abrupt deterioration of kidney function. The incidence of pediatric AKI is increasing worldwide, both in critically and non-critically ill settings. We aimed to characterize the presentation, etiology, evolution, and outcome of AKI in pediatric patients admitted to a tertiary care center. Methods: We performed a retrospective observational single-center study of patients aged 29 days to 17 years and 365 days admitted to our Pediatric Nephrology Unit from January 2012 to December 2021, with the diagnosis of AKI. AKI severity was categorized according to Kidney Disease Improving Global Outcomes (KDIGO) criteria. The outcomes considered were death or sequelae (proteinuria, hypertension, or changes in renal function at 3 to 6 months follow-up assessments). Results: Forty-six patients with a median age of 13.0 (3.5-15.5) years were included. About half of the patients (n = 24, 52.2%) had an identifiable risk factor for the development of AKI. Thirteen patients (28.3%) were anuric, and all of those were categorized as AKI KDIGO stage 3 (p < 0.001). Almost one quarter (n = 10, 21.7%) of patients required renal replacement therapy. Approximately 60% of patients (n = 26) had at least one sequelae, with proteinuria being the most common (n = 15, 38.5%; median (P25-75) urinary protein-to-creatinine ratio 0.30 (0.27-0.44) mg/mg), followed by reduced glomerular filtration rate (GFR) (n = 11, 27.5%; median (P25-75) GFR 75 (62-83) mL/min/1.73 m2). Conclusions: Pediatric AKI is associated with substantial morbidity, with potential for proteinuria development and renal function impairment and a relevant impact on long-term prognosis.

RESUMO Introdução: Insuficiência renal aguda (IRA) é uma deterioração abrupta da função renal. A incidência de IRA pediátrica está aumentando em todo o mundo, em ambientes críticos e não críticos. Nosso objetivo foi caracterizar apresentação, etiologia, evolução e desfechos da IRA em pacientes pediátricos internados em um centro de atendimento terciário. Métodos: Realizamos estudo retrospectivo observacional de centro único de pacientes com idade entre 29 dias a 17 anos e 365 dias internados em nossa Unidade de Nefrologia Pediátrica, de janeiro de 2012 a dezembro de 2021, com diagnóstico de IRA. A gravidade da IRA foi categorizada de acordo com os critérios do Kidney Disease Improving Global Outcomes (KDIGO). Os desfechos considerados foram óbito ou sequelas (proteinúria, hipertensão ou alterações na função renal em avaliações de acompanhamento de 3 a 6 meses). Resultados: Incluímos 46 pacientes com idade mediana de 13,0 (3,5-15,5) anos. Cerca de metade (n = 24; 52,2%) apresentou um fator de risco identificável para o desenvolvimento de IRA. Treze pacientes (28,3%) eram anúricos; todos foram classificados como IRA KDIGO 3 (p < 0,001). Quase um quarto (n = 10; 21,7%) dos pacientes necessitaram de terapia renal substitutiva. Aproximadamente 60% (n = 26) apresentou pelo menos uma sequela, sendo proteinúria a mais comum (n = 15; 38,5%; mediana (P25-75) da relação proteína/creatinina urinária 0,30 (0,27-0,44) mg/mg), seguida de taxa de filtração glomerular (TFG) reduzida (n = 11; 27,5%; mediana (P25-75) da TFG 75 (62-83) mL/min/1,73 m2). Conclusões: A IRA pediátrica está associada à morbidade substancial, com potencial para desenvolvimento de proteinúria e comprometimento da função renal e impacto relevante no prognóstico de longo prazo.

Percutaneous kidney biopsies in children: a 24-year review in a tertiary center in northern Portugal / Biópsias renais percutâneas em crianças: uma revisão de 24 anos em um centro terciário no norte de Portugal

Introduction: Percutaneous kidney biopsy (KB) is crucial to the diagnosis and management of several renal pathologies. National data on native KB in pediatric patients are scarce. We aimed to review the demographic and clinical characteristics and histopathological patterns in children who underwent native percutaneous KB over 24 years. Methods: Retrospective observational study of patients undergoing native percutaneous KB in a pediatric nephrology unit between 1998 and 2021, comparing 3 periods: period 1 (1998-2005), period 2 (2006-2013), and period 3 (2014-2021). Results: We found that 228 KB were performed, 78 (34.2%) in period 1, 91 (39.9%) in period 2, and 59 (25.9%) in period 3. The median age at KB was 11 (7-14) years. The main indications for KB were nephrotic syndrome (NS) (42.9%), hematuria and/or non-nephrotic proteinuria (35.5%), and acute kidney injury (13.2%). Primary glomerulopathies were more frequent (67.1%), particularly minimal change disease (MCD) (25.4%), IgA nephropathy (12.7%), and mesangioproliferative glomerulonephritis (GN) (8.8%). Of the secondary glomerulopathies, lupus nephritis (LN) was the most prevalent (11.8%). In group 1, hematuria and/or non-nephrotic proteinuria were the main reasons for KB, as opposed to NS in groups 2 and 3 (p < 0.01). LN showed an increasing trend (period 1-3: 2.6%-5.3%) and focal segmental glomerular sclerosis (FSGS) showed a slight decreasing trend (period 1-3: 3.1%-1.8%), without statistical significance. Conclusions: The main indication for KB was NS, which increased over time, justifying the finding of MCD as main histological diagnosis. LN showed an increase in incidence over time, while FSGS cases did not increase.

RESUMO Introdução: A biópsia renal (BR) percutânea é fundamental para diagnóstico e manejo de diversas patologias renais. Dados nacionais sobre BR nativa em pacientes pediátricos são escassos. Nosso objetivo foi revisar características demográficas, clínicas e padrões histopatológicos em crianças submetidas a BR percutânea nativa ao longo de 24 anos. Métodos: Estudo observacional retrospectivo de pacientes submetidos a BR percutâneas nativas em unidade de nefrologia pediátrica entre 1998 e 2021, comparando três períodos: período 1 (1998-2005), período 2 (2006-2013), período 3 (2014-2021). Resultados: Constatamos que foram realizadas 228 BR, 78 (34,2%) no período 1, 91 (39,9%) no período 2, 59 (25,9%) no período 3. A idade mediana na BR foi 11 (7-14) anos. As principais indicações para BR foram síndrome nefrótica (SN) (42,9%), hematúria e/ou proteinúria não nefrótica (35,5%), lesão renal aguda (13,2%). Glomerulopatias primárias foram mais frequentes (67,1%), principalmente doença de lesão mínima (DLM) (25,4%), nefropatia por IgA (12,7%), glomerulonefrite mesangioproliferativa (GN) (8,8%). Das glomerulopatias secundárias, nefrite lúpica (NL) foi a mais prevalente (11,8%). No grupo 1, hematúria e/ou a proteinúria não nefrótica foram os principais motivos para BR, ao contrário da SN nos grupos 2 e 3 (p < 0,01). A NL apresentou tendência crescente (período 1-3: 2,6%-5,3%) e a glomeruloesclerose segmentar focal (GESF) apresentou leve tendência decrescente (período 1-3: 3,1%-1,8%), sem significância estatística. Conclusões: A principal indicação para BR foi SN, que aumentou ao longo do tempo, justificando o achado de DLM como principal diagnóstico histológico. A NL apresentou aumento na incidência ao longo do tempo, enquanto os casos de GESF não aumentaram.

The maintenance and interface of two wheelchairs used by children with cerebral palsy in Kenya: a cross-sectional study.

Current wheelchairs used in low-resource settings lack the adjustability required for children with cerebral palsy and are not well-suited for rough terrain environments. This study aimed to examine the durability and functional interface of two wheelchairs specifically designed for use in low-resource settings. This descriptive study assessed 14 wheelchairs used by children with cerebral palsy living in Kenya, Africa (Momentum Wheels for Humanity's Liberty II wheelchair n = 6, Beeline's Honey Bee wheelchair n = 8). Four physical and occupational therapists evaluated durability using the Wheelchair Components Questionnaire (WCQ) and functionality using the Wheelchair Interface Questionnaire (WIQ). Medians were used to compare differences in the chair types using the Wilcoxon-Mann-Whitney test in Statistical Analysis Software (SAS) 9.4 with an alpha = 0.05. Median scores on the WCQ were 8.3/10 for the Liberty II and 7.8/10 for Beeline's Honey Bee wheelchair; however, the durability of the wheel locks was lower in the Beeline wheelchair (5.1/10 compared to the Liberty II 8.1/10 (p = 0.002). Median scores on the WIQ were lower and significantly different in the area of preventing distal lower extremity pain (Liberty II =3.7/10 and Beeline = 7.6/10, p = 0.045). Low scores occurred in both chairs in the areas of transfers and transporting the chairs in the community. The Beeline wheelchairs demonstrated higher average ratings for all areas of the WIQ, indicating the wheelchairs fit the children better and were more functional for use in the home and community environment.

Beeline Honey Bee and Clasp Liberty II wheelchairs demonstrate strengths supporting children in their communities, although no single type of wheelchair is perfect for children with cerebral palsy in low to middle-income countries with rough terrain.Rehabilitation professionals can use their physiological expertise to provide feedback on durability and functionality of wheelchairs in collaboration with wheelchair manufacturers to provide the most durable, cost-effective assistive technologies that support the user's physiological needs.The appropriate provision of wheelchairs can increase the quality of life for the child and their families, enabling them to participate in their local communities more fully.

An Uncommon Case of Pediatric Nasopharyngeal Carcinoma with Bone Metastases and Enchondromas Evaluated Using 18F-FDG PET/CT.

Nowadays, the utility of positron emission tomography/computed tomography (PET/CT) is well established in nasopharyngeal carcinoma (NPC). The incidence of NPC in the West population, especially in children, is very low. We present the first Italian case of a pediatric patient with NPC followed up with 18F-fluorodeoxyglucose (18F-FDG) PET/CT scan in addition to the standard follow-up imaging methods, including CT and magnetic resonance imaging. The 18F-FDG PET/CT scan was helpful in discriminating between metastatic and benign osseous lesions, thereby helping clinicians to determine the most appropriate therapeutic regimen. These findings support the clinical utility of 18F-FDG PET/CT in the diagnostic work-up of pediatric patients with NPC.

Accidental allergic reactions to immediate-type food allergens in Japanese children: A single-center study.

BACKGROUND: Few studies have assessed the nature of accidental allergic reactions (AAR). We assessed the prevalence and risk factors for AAR in Japanese children. METHODS: This study included children with immediate-type hen's egg (HE), cow's milk (CM), wheat, or peanut allergy who developed allergic reactions within at least 2 years and were followed up regularly at a single national allergy center in Japan. From January to December 2020, low-dose reactivity was defined as allergic reactions to ≤250, ≤102, ≤53, or ≤ 133 mg of HE, CM, wheat, or peanut protein, respectively. The annualized AAR rate showed the number of reactions per patient per year (95% confidence interval). AAR risk factors were analyzed using multiple logistic regression. RESULTS: Of the 1096 participants, 609, 457, 138, and 90 had HE, CM, wheat, and peanut allergies, respectively. The median (interquartile range) age was 5.0 (2.3-8.6) years, 39% had completely eliminated allergenic food, and 24% had low-dose reactivity. The annualized AAR rate was 0.130 (0.109-0.153) in all sub-cohorts. Moderate and severe symptoms occurred in 50% and 0.7%, respectively, of children who experienced AAR. Multiple logistic regression revealed that low-dose reactivity was a significant risk factor for AAR in the overall and CM cohorts, respectively (p < .001 and p = .036). CONCLUSION: In this single-center study in Japan, the annualized AAR rate was relatively low during the COVID-19 pandemic; however, half of the participants with AAR had moderate to severe symptoms. Especially in the case of low-dose reactivity, children would require careful AAR risk management.

Prevalence and risk factors of hyponatremia in hospitalized critically ill children: an observational study.

Critically ill children frequently encounter the most common and potentially life-threatening electrolyte disturbances, i.e., hyponatremia. It is an independent risk factor for prolonged hospitalization in the intensive care unit and increased in-hospital mortality. Hyponatremia occurs in up to 20%-30% of admissions in the pediatric intensive care unit (PICU). This observational study was conducted in the PICU of a tertiary care hospital in a developing country from September 2018 to September 2019. Admission criteria in our PICU are the need for mechanical ventilation, fulminant hepatic failure, vasopressor support, respiratory failure and poorly controlled seizure. We studied 256 children, aged 1 month to 18 years, with normal serum sodium at admission. In our study, 72 (28.1%) children developed hyponatremia, and about two third (n=48, 66.7%) of them developed within 72 hours of admission in PICU. The majority of children (n = 46, 63.9%) in the hyponatremic group were below 5 years. Wasted children (n = 68, 26.6%) in the hyponatremic and isonatremic groups were 20 (27.8%) and 48 (26%), respectively. The most common etiology of hyponatremia was cerebral salt wasting syndrome (n = 20, 27.8%) followed by drug-induced cases (n = 19, 26.4%). The drugs responsible were diuretics and anti-epileptics. In our study, multiorgan failure (OR = 5.05, 95%CI = 1.90-13.43; p = 0.0001), shock (OR = 7.38, 95%CI = 3.56-12.28; p = 0.0001), vasopressor use (OR = 6.74, 95%CI = 3.45-13.17; p = 0.0001) and coagulopathy (OR = 6.74, 95%CI = 3.45-13.17; p = 0.0001) were the risk factors for the development of hyponatremia. Mortality among the hyponatremic group (44.4%) was significantly higher than in the isonatremic group (21.7%). Hyponatremia is a common electrolyte disturbance found in critically ill patients and is associated with prolonged hospitalization and increased mortality.

Establishing the Saudi pediatric and youth diabetes registry: initial data and challenges.

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

Clinical pathway development to standardize pharmacological medication management of agitation in pediatric inpatient settings.

Objective: Acute agitation in pediatrics is commonly encountered in hospital settings, can contribute to significant physical and psychological distress, and management is highly varied in practice. As such, the development of a standardized pharmacologic guideline is paramount. We aimed to develop a novel clinical pathway (CP) for management of acute agitation for all hospitalized pediatric patients in Canada. Methods: Healthcare professionals in Canada with expertise in treating and managing pediatric agitation formed a working group and developed a CP through conducting a literature review, engaging key partners, and obtaining interdisciplinary consensus (iterative real-time discussions with content experts). Once developed, the preliminary CP was presented to additional internal and external partners via multiple grand rounds and a webinar; feedback from participants guided final CP revisions. Results: The working group created a pediatric inpatient CP to guide pharmacologic management of agitation and serve as an easy-to-use clinical and educational resource with three complementary sections including: 1) a treatment algorithm, 2) a quick reference medication chart, and 3) two supporting documents, which provide a general overview of non-pharmacologic strategies prior to CP implementation and an illustrative scenario to accompany the medication chart to ensure effective utilization. Conclusions: This is the first CP to standardize pharmacological treatment and management of acute agitation in children in inpatient settings in Canada. Although further research is warranted to assess implementation and support process improvement, the CP can be adapted by individual institutions to assist in prompt pharmacological management of pediatric agitation to potentially improve outcomes for patients, families, and healthcare professionals.

Objectif: L'agitation aiguë en pédiatrie survient couramment en milieu hospitalier, elle peut contribuer à une détresse physique et psychologique significative, et la prise en charge en est très variée dans la pratique. Ainsi, l'élaboration de lignes directrices pharmacologiques standardisées est essentielle. Nous cherchions à développer un nouveau parcours clinique (PC) de la prise en charge de l'agitation aiguë pour tous les patients pédiatriques hospitalisés au Canada. Méthodes: Les professionnels de la santé au Canada qui ont l'expertise du traitement et de la prise en charge de l'agitation pédiatrique ont formé un groupe de travail et développé un PC en menant une revue littéraire, en embauchant des partenaires cibles, et en obtenant un consensus interdisciplinaire (discussions itératives en temps réel avec des experts en contenu). Une fois développé, le PC préliminaire a été présenté à des partenaires internes et externes additionnels lors de multiples grandes rondes et à un webinaire; les commentaires des participants ont guidé les révisions finales du PC. Résultats: Le groupe de travail a créé un PC pour patient psychiatrique hospitalisé afin de guider la prise en charge pharmacologique de l'agitation et de servir de ressource clinique et éducative facile à utiliser munie de trois sections complémentaires notamment : 1) un algorithme de traitement, 2) un tableau des médicaments de référence, et 3) deux documents de soutien, qui offrent un aperçu général de stratégies non-pharmacologiques avant la mise en œuvre du PC et un scénario illustré pour accompagner le tableau des médicaments afin d'assurer une utilisation efficace. Conclusions: C'est le premier PC qui normalise le traitement pharmacologique et la prise en charge de l'agitation aiguë chez les enfants en milieu hospitalier au Canada. Bien que plus de recherche soit justifiée afin d'évaluer la mise en œuvre et de soutenir l'amélioration du processus, le PC peut être adapté par les institutions individuelles afin d'aider à une gestion pharmacologique rapide de l'agitation pédiatrique et de potentiellement aider à la gestion pharmacologique de l'agitation pédiatrique pour les patients, les familles et les professionnels de la santé.

Perceptions of sleep health among African American mothers regarding their preschool-aged children: A qualitative study to decrease sleep health disparities.

OBJECTIVES: African American children are documented as having poor sleep health due to shorter sleep duration, sleep timing, and sleep behaviors compared to White peers, contributing to child health disparities. Identifying cultural-environmental, and societal factors impacting a child's sleep among African American families is essential for developing interventions for this population. This study evaluated holistically why African American children may have poorer sleep health by examining sleep duration, timing, and behaviors. This was assessed by examining sleep-related beliefs, barriers, and facilitators to sleep schedules and routines. We also explored parental ideas for a sleep intervention. METHODS: African American mothers of preschool-aged children (2-5years) were recruited using local partnerships and social media. Individual semistructured interviews were conducted by phone. Interviews were transcribed, coded, and analyzed thematically using grounded-theory. RESULTS: Eighteen African American mothers completed the study. Five themes related to sleep emerged: The importance of adequate nighttime sleep, the influence of family and friends on parental sleep practices, the relationship between environmental and home dynamics on child sleep duration, the impact of acute and chronic societal-level stressors on family sleep health, and considerations for culturally tailored interventions to improve child sleep health. CONCLUSIONS: Good sleep health was important among African American mothers. Cultural-environmental and societal factors significantly impact children's sleep health. Clinicians and researchers should be aware of financial resources and home dynamics leading to challenges with adequate sleep health when developing or adapting sleep interventions. Identifying cultural-environmental, and societal factors must be considered for targeted efforts to improve sleep health in African American children.

Validation of entrustable professional activities for use in neonatal care residency programs.

OBJECTIVE: Define and develop a set of entrustable professional activities (EPAs) to link clinical training and assessment of the hospital components of neonatal care in neonatology medical residency programs. METHODS: An exploratory study was conducted in two phases using a modified Delphi approach. In the first phase, a committee of five neonatology residency program coordinators drafted an initial set of EPAs based on the national matrix of competencies and on EPAs defined by international organizations. In the second phase, a group of neonatal care physicians and medical residents rated the indispensability and clarity of the EPAs and provided comments and suggestions. RESULTS: Seven EPAs were drafted by the coordinators´ committee (n = 5) and used in the content validation process with a group (n = 37) of neonatal care physicians and medical residents. In the first Delphi round, all EPAs reached a content validity index (CVI) above 0.8. The coordinators´ committee analyzed comments and suggestions and revised the EPAs. A second Delphi round with the revised EPAs was conducted to validate and all items maintained a CVI above 0.8 for indispensability and clarity. CONCLUSION: Seven entrustable professional activities were developed to assess residents in the hospital components of neonatal care medicine. These EPAs might contribute to implementing competency-based neonatology medical residency programs grounded in core professional activities.

Asthma Control and Associated Factors Among Children with Current Asthma - Findings from the 2019 Child Behavioral Risk Factor Surveillance System - Asthma Call-Back Survey.

Purpose: This study aimed to determine the prevalence and correlates of uncontrolled asthma among children with current asthma in four US states. We also determined the rates and correlates of asthma-related hospitalization, urgent care center (UCC), or emergency department (ED) visits. Participants and Methods: We analyzed the 2019 Behavioral Risk Factor Surveillance Survey (BRFSS) Asthma Call-back Survey (ACBS) datasets. Asthma control status was classified as well-controlled or uncontrolled asthma based on day- and night-time asthma symptoms, activity limitation or use of rescue medications. Multivariable logistic regression models were used to identify the correlates of uncontrolled asthma and asthma-related hospitalization or UCC/ED visits. Results: Among 249 children with current asthma, 55.1% had uncontrolled asthma while 40% reported asthma-related hospitalization or UCC/ED visits in the past year. Non-Hispanic ethnicity, ages of 0-9 and 15-17 years, household income <$25,000, and not having a flu vaccination had higher odds of uncontrolled asthma. Conversely, asthma self-management education and households with two children compared to one were positively associated with uncontrolled asthma. For healthcare utilization, male and non-Hispanic children, along with those from households earning <$25,000 exhibited higher odds of asthma-related hospitalization and UCC/ED visits. Conclusion: Uncontrolled asthma and asthma-related visits to UCC/ED and hospitalization are common among children with current asthma. These outcomes are influenced by low household income and male sex, among other factors which call for multi-faceted interventions by healthcare providers and policymakers. Targeted strategies to effectively manage asthma and reduce the need for emergency healthcare services are recommended.

Disconnective hemispherotomy: technique and operative highlights.

Hemispherectomy is an effective procedure used in the treatment of drug-resistant hemispheric epilepsy, especially in the pediatric population. A number of resective and disconnective techniques are used, and selection of surgical strategy is paramount to achieving successful results. Notably, disconnective (or functional) hemispherotomy maximizes the benefits of safe, surgical disconnection while minimizing hemispheric tissue resection, thereby avoiding some of the perioperative factors contributing to morbidity in traditional anatomical hemispherectomy procedures. In this video, the authors outline the principal surgical steps of disconnective hemispherotomy and highlight important technical factors leading to optimal outcomes in patients with refractory, oftentimes catastrophic, hemispheric epilepsy. The video can be found here: https://stream.cadmore.media/r10.3171/2024.4.FOCVID2436.

Applying a Trauma-Informed Lens to Challenging Adolescent Encounters: A Faculty Development Session for Pediatricians.

Introduction: Patient encounters perceived to be challenging are common and contribute to both suboptimal patient health outcomes and provider burnout. A trauma-informed care (TIC) approach to these encounters is critical, as many of the characteristics associated with challenging patient encounters can be linked to a history of trauma exposure. Methods: Our team created and delivered a 1-hour synchronous virtual session intended to bolster provider knowledge of TIC principles and their application to challenging adolescent encounters. Participants were all faculty and staff engaged in pediatric primary care at an urban academic center, including physicians, nurse practitioners, psychologists, and social workers. The content was rooted in adult learning principles and included didactic components anchored to case-based learning with facilitated group discussions and opportunities for reflection. We used paired pre- and postsession self-assessments of provider knowledge, confidence, and practice related to TIC using Likert-scale and free-text questions. Descriptive statistics and a paired t test were used to determine the impact of the session on these metrics. Results: In 24 paired surveys, there were statistically significant increases (p ≤ .001) in participant perceived knowledge, confidence, and practice, with 100% of participants having a statistically significant improvement in one or more of these domains. There were also strongly positive Likert-scale and free-text responses regarding content relevance and delivery. Discussion: We demonstrate that a brief session can create improvement in pediatric providers' perceived knowledge about the application of TIC principles to challenging adolescent encounters as well as confidence in their ability to put these into practice.

Case-Based Specialty Training for Medical Students to Elicit Social Determinants of Health.

Introduction: Without explicit education and training on how social determinants of health (SDoH) impact patient care and health outcomes, medical schools are failing to effectively equip future physicians to serve their patients. We created this workshop on health equity with a focus on SDoH to help students more effectively communicate with diverse populations. Methods: Third-year medical students and faculty were provided with class guides, learning objectives, role-play vignettes containing clerkship-specific history and physical exams, schedules, and discussion questions during a 2-hour session centered on SDoH. The workshop's impact was measured through mixed-methods analysis of surveys. Results: Based on pre- and postsurvey results from 87 participants, medical students strongly agreed that (1) SDoH factor more into a patient's health outcomes than the clinical encounter (pre: 67%, post: 87%), (2) it is their duty to gather information about SDoH (pre: 86%, post: 97%), (3) neighborhood safety is one of the key SDoH (pre: 88%, post: 97%), (4) they understood the impact of upstream interventions (pre: 35%, post: 93%), (5) they could efficiently screen all patients for SDoH at every medical encounter (pre: 27%, post: 86%), and (6) they could find preliminary resources to quickly assist patients in need of help regarding particular SDoH (pre: 26%, post: 85%). Discussion: This was the first iteration of this workshop; challenges involved piloting the content, time restraints, and organizational structure of the workshop design. Future directions include making SDoH curricula an integral part of undergraduate medical education and diverse clinical environments.

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

BACKGROUND: SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in a 'copy-and-paste' manner. They continue to move actively and cause monogenic diseases through various mechanisms. Currently, disease-causing SVA retrotransposons are classified into human-specific young SVA_E or SVA_F subfamilies. In this study, we identified an evolutionarily old SVA_D retrotransposon as a novel cause of occipital horn syndrome (OHS). OHS is an X-linked, copper metabolism disorder caused by dysfunction of the copper transporter, ATP7A. METHODS: We investigated a 16-year-old boy with OHS whose pathogenic variant could not be detected via routine molecular genetic analyses. RESULTS: A 2.8 kb insertion was detected deep within the intron of the patient's ATP7A gene. This insertion caused aberrant mRNA splicing activated by a new donor splice site located within it. Long-read circular consensus sequencing enabled us to accurately read the entire insertion sequence, which contained highly repetitive and GC-rich segments. Consequently, the insertion was identified as an SVA_D retrotransposon. Antisense oligonucleotides (AOs) targeting the new splice site restored the expression of normal transcripts and functional ATP7A proteins. AO treatment alleviated excessive accumulation of copper in patient fibroblasts in a dose-dependent manner. Pedigree analysis revealed that the retrotransposon had moved into the OHS-causing position two generations ago. CONCLUSION: This is the first report of a human monogenic disease caused by the SVA_D retrotransposon. The fact that the evolutionarily old SVA_D is still actively transposed, leading to increased copy numbers may make a notable impact on rare genetic disease research.

Performing [18F]MFBG Long-Axial-Field-of-View PET/CT Without Sedation or General Anesthesia for Imaging of Children with Neuroblastoma.

Meta-[123I]iodobenzylguanidine ([123I]MIBG) scintigraphy with SPECT/CT is the standard of care for diagnosing and monitoring neuroblastoma. Replacing [123I]MIBG with the new PET tracer meta-[18F]fluorobenzylguanidine ([18F]MFBG) and further improving sensitivity and reducing noise in a new long-axial-field-of-view (LAFOV) PET/CT scanner enable increased image quality and a faster acquisition time, allowing examinations to be performed without sedation or general anesthesia (GA). Focusing on feasibility, we present our first experience with [18F]MFBG LAFOV PET/CT and compare it with [123I]MIBG scintigraphy plus SPECT/CT for imaging in neuroblastoma in children. Methods: A pilot of our prospective, single-center study recruited children with neuroblastoma who were referred for [123I]MIBG scintigraphy with SPECT/CT. Within 1 wk of [123I]MIBG scintigraphy and SPECT/low-dose CT, [18F]MFBG LAFOV PET/ultra-low-dose CT was performed 1 h after injection (1.5-3 MBq/kg) without sedation or GA, in contrast to the 24-h postinjection interval needed for scanning with [123I]MIBG, the 2- to 2.5-h acquisition time, and the GA often needed in children less than 6 y old. Based on the spirocyclic iodonium-ylide precursor, [18F]MFBG was produced in a fully automated good manufacturing practice-compliant procedure. We present the feasibility of the study. Results: In the first paired scans of the first 10 children included (5 at diagnosis, 2 during treatment, 2 during surveillance, and 1 at relapse), [18F]MFBG PET/CT scan showed a higher number of radiotracer-avid lesions in 80% of the cases and an equal number of lesions in 20% of the cases. The SIOPEN score was higher in 50% of the cases, and the Curie score was higher in 70% of the cases. In particular, intraspinal, retroperitoneal lymph node, and bone marrow involvement was diagnosed with much higher precision. None of the children (median age, 1.6 y; range, 0.1-7.9 y) had sedation or GA during the PET procedure, whereas 80% had GA during [123I]MIBG scintigraphy with SPECT/CT. A PET acquisition time of only 2 min without motion artifacts was the data requirement of the 10-min acquisition time for reconstruction to provide a clinically useful image. Conclusion: This pilot study demonstrates the feasibility of performing [18F]MFBG LAFOV PET/CT for imaging of neuroblastoma. Further, an increased number of radiotracer-avid lesions, an increased SIOPEN score, and an increased Curie score were seen on [18F]MFBG LAFOV PET/CT compared with [123I]MIBG scintigraphy with SPECT/CT, and GA and sedation was avoided in all patients. Thus, with a 1-d protocol, a significantly shorter scan time, a higher sensitivity, and the avoidance of GA and sedation, [18F]MFBG LAFOV PET/CT shows promise for future staging and response assessment and may also have a clinical impact on therapeutic decision-making for children with neuroblastoma.

Pilot Assessment of Platelet Thrombus Area and Contractile Force in Pediatric Congenital Heart Surgery Patients Using a Microfluidic Device.

OBJECTIVES: This work was designed to evaluate maximum platelet contractile force and thrombus area before and after cardiopulmonary bypass (CPB) in pediatric patients having congenital heart disease (CHD) surgery using a microfluidic device. DESIGN: A prospective cohort study was designed. SETTING: The work took place at an academic medical center. PARTICIPANTS: Twenty pediatric CHD patients ≤8 years of age with expected CPB time >30 minutes were enrolled. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Blood was collected at baseline and post-CPB. Maximum platelet contractile force and thrombus area were evaluated in vitro using a microfluidic device (ATLAS PST). Post-CPB samples were supplemented with recombinant von Willebrand factor (rVWF) to explore the impact on contractile force and thrombus area. At baseline, the maximum thrombus area was 0.06 (0.05, 0.07), and the maximum force was 123.3 nN (68.4, 299.5). Linear mixed-effects regression models showed that the maximum thrombus area was larger post-CPB and post-CPB + rVWF compared with pre-CPB (estimated coefficient [Est] = 0.04, p = 0.002; Est = 0.09, p < 0.001, respectively). The maximum thrombus area was also larger post-CPB + rVWF compared with post-CPB (Est = 0.04, p = 0.001). Force was higher post-CPB + rVWF compared with pre-CPB (Est = 173.32, p = 0.044). CONCLUSIONS: In pediatric CHD patients, microfluidic testing demonstrated that platelet thrombus area increased slightly after CPB, while platelet contractile force did not change. In vitro addition of rVWF further increased thrombus area, suggesting augmentation of primary hemostasis. Microfluidic assessment of platelet contractile force and thrombus area in pediatric CHD patients appears feasible and can demonstrate changes after CPB. Further studies are needed to determine its accuracy, clinical utility, and normal values for pediatric patients.

Burden of oral diseases predicts development of excess weight in early adolescence: a 2-year longitudinal study.

Dental caries, gingivitis, and excess weight are highly prevalent, interconnected chronic conditions. The association of oral health with the development of adiposity among children is sparsely addressed. We examined the association of oral health to the development of excess weight and central obesity in early adolescence during a 2-year follow-up period. This prospective study was conducted with 2702 children aged 9-12 years at baseline from the Finnish Health in Teens study. Their weight development was followed up for 2 years. Body mass index with age- and sex-specific cut-offs and the waist-height ratio indicated weight status and central obesity. Oral health data (caries experience and gingivitis/calculus) were collected from outpatient records of public dental services. Having both caries experience and gingivitis/calculus was considered burden of oral diseases. Of the sample, 74% were caries-free but 70% exhibited gingivitis and/or calculus, and 20% had both caries experience and gingivitis/calculus. During the follow-up period, 5.3% (n = 124) and 4.7% (n = 118) of the children became overweight/obese or centrally obese, respectively. Having both caries experience and gingivitis/calculus associated with the development of excess weight in a fully adjusted model (HR 1.75, 95% CI 1.03-2.97) but not of central obesity. Caries experience or gingivitis/calculus alone did not associate with adiposity development. CONCLUSION: Having burden of oral diseases without excess weight at early adolescence could imply future weight gain; thus, normal-weight individuals with both caries experience and gingivitis/calculus could be targeted with preventive measures. Our findings warrant further research to explore whether oral diseases and the development of obesity merely share risk factors or if their relationship is of causal nature. WHAT IS KNOWN: • Association of excess weight with caries experience and gingivitis is known to exist both cross-sectionally and longitudinally in children and adolescents. WHAT IS NEW: • Burden of oral diseases, that is, having both caries experience and gingivitis/calculus, was associated with becoming overweight or obese 2 years later during early adolescence. • Normal-weight individuals with burden of oral diseases at early adolescence could be targeted with preventive measures against excess weight gain.